ClinVar Miner

List of variants in gene TRNT1 reported as pathogenic for immune system disorder

Included ClinVar conditions (908):
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Gene type:
ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_182916.3(TRNT1):c.668T>C (p.Ile223Thr) rs370011798 0.00008
NM_182916.3(TRNT1):c.608+1G>T rs529290186 0.00005
NM_182916.3(TRNT1):c.1246A>G (p.Lys416Glu) rs199931785 0.00004
NM_182916.3(TRNT1):c.538A>T (p.Lys180Ter) rs762873423 0.00004
NM_182916.3(TRNT1):c.829G>T (p.Glu277Ter) rs370699359 0.00004
NM_182916.3(TRNT1):c.1019del (p.Ser339_Ser340insTer) rs755536381 0.00002
NM_182916.3(TRNT1):c.1010del (p.Thr337fs) rs772805677 0.00001
NM_182916.3(TRNT1):c.218_219insGAGGGATTTATTAAATTATAAATTTATTAAATGGATTTATTAAA (p.Val73_Lys74insArgAspLeuLeuAsnTyrLysPheIleLysTrpIleTyrTer) rs746154279 0.00001
NM_182916.3(TRNT1):c.33_46del (p.Leu13fs) rs763685455 0.00001
NM_182916.3(TRNT1):c.442dup (p.Ala148fs) rs1410048027 0.00001
NM_182916.3(TRNT1):c.461C>T (p.Thr154Ile) rs606231290 0.00001
NM_182916.3(TRNT1):c.609-26T>C rs876661299 0.00001
NM_182916.3(TRNT1):c.622_623del (p.Ile208fs) rs1259648157 0.00001
NC_000003.11:g.(?_3170725)_(3189838_?)del
NC_000003.11:g.(?_3186248)_(3189838_?)del
NM_182916.3(TRNT1):c.1012_1013del (p.Thr337_Asp338insTer)
NM_182916.3(TRNT1):c.1013_1016del (p.Asp338fs)
NM_182916.3(TRNT1):c.1013_1016dup (p.Ser339delinsArgTer)
NM_182916.3(TRNT1):c.1038_1041dup (p.Asp348fs) rs1706137764
NM_182916.3(TRNT1):c.1053_1054insT (p.Asp352Ter) rs2126037181
NM_182916.3(TRNT1):c.1055_1056+5del rs770760147
NM_182916.3(TRNT1):c.1056+1G>A rs369179242
NM_182916.3(TRNT1):c.1056+1G>T
NM_182916.3(TRNT1):c.1057-7C>G rs368078167
NM_182916.3(TRNT1):c.1142_1143insATGT (p.Trp381Ter) rs606231291
NM_182916.3(TRNT1):c.1150_1157del (p.Pro384fs)
NM_182916.3(TRNT1):c.1163dup (p.Ser389fs)
NM_182916.3(TRNT1):c.1178_1184del (p.Ile393fs) rs2126038227
NM_182916.3(TRNT1):c.1190del (p.Gly397fs) rs2126038249
NM_182916.3(TRNT1):c.1205_1206dup (p.Glu403fs) rs1449106096
NM_182916.3(TRNT1):c.1228C>T (p.Gln410Ter)
NM_182916.3(TRNT1):c.1234C>T (p.Arg412Ter)
NM_182916.3(TRNT1):c.1252_1253insT (p.Ser418fs) rs1706186945
NM_182916.3(TRNT1):c.1252del (p.Ser418fs) rs876661298
NM_182916.3(TRNT1):c.1252dup (p.Ser418fs) rs876661298
NM_182916.3(TRNT1):c.151_160del (p.Leu51fs)
NM_182916.3(TRNT1):c.176_182del (p.Glu58_Leu59insTer)
NM_182916.3(TRNT1):c.240del (p.Phe80fs) rs1297648080
NM_182916.3(TRNT1):c.263_266del (p.Gln88fs) rs772722561
NM_182916.3(TRNT1):c.324_330del (p.His108fs) rs776199133
NM_182916.3(TRNT1):c.373del (p.Leu125fs) rs1553554007
NM_182916.3(TRNT1):c.428_431del (p.Asp143fs) rs1401711549
NM_182916.3(TRNT1):c.433C>T (p.Gln145Ter)
NM_182916.3(TRNT1):c.443C>T (p.Ala148Val) rs761516140
NM_182916.3(TRNT1):c.497T>C (p.Leu166Ser) rs606231289
NM_182916.3(TRNT1):c.498_501del (p.Phe167fs) rs754883449
NM_182916.3(TRNT1):c.501dup (p.Asp168Ter) rs1445182754
NM_182916.3(TRNT1):c.512dup (p.Asn171fs)
NM_182916.3(TRNT1):c.542_545del (p.Val181fs) rs769317780
NM_182916.3(TRNT1):c.544_545insAA (p.Arg182fs)
NM_182916.3(TRNT1):c.569G>T (p.Arg190Ile) rs606231287
NM_182916.3(TRNT1):c.569_570del (p.Arg190fs)
NM_182916.3(TRNT1):c.5_12del (p.Leu2fs)
NM_182916.3(TRNT1):c.608+1G>A rs529290186
NM_182916.3(TRNT1):c.667del (p.Ile223fs)
NM_182916.3(TRNT1):c.689_693del (p.Leu230fs)
NM_182916.3(TRNT1):c.711del (p.Ile238fs) rs2126034894
NM_182916.3(TRNT1):c.733dup (p.Ile245fs) rs1706032688
NM_182916.3(TRNT1):c.73C>T (p.Gln25Ter) rs1415152805
NM_182916.3(TRNT1):c.778del (p.Asp260fs) rs1433432612
NM_182916.3(TRNT1):c.809del (p.Pro270fs) rs2126036604
NM_182916.3(TRNT1):c.847A>T (p.Lys283Ter) rs749437475
NM_182916.3(TRNT1):c.851dup (p.Asn284fs) rs2126036713
NM_182916.3(TRNT1):c.865del (p.Ser289fs) rs1575066836
NM_182916.3(TRNT1):c.971T>G (p.Leu324Ter)
NM_182916.3(TRNT1):c.974_977del (p.Leu324_Phe325insTer) rs1249830698
NM_182916.3(TRNT1):c.996_999del (p.Asp332fs) rs769331677

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